Variant report

Variant	rs11992473
Chromosome Location	chr8:105573610-105573611
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:105573056-105573961	K562	blood:	n/a	n/a
2	EBF1	chr8:105573524-105573640	GM12878	blood:	n/a	n/a
3	CEBPB	chr8:105573424-105573775	K562	blood:	n/a	chr8:105573581-105573592 chr8:105573582-105573593 chr8:105573581-105573594
4	CEBPB	chr8:105573515-105573751	HepG2	liver:	n/a	chr8:105573581-105573592 chr8:105573582-105573593 chr8:105573581-105573594

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105572145..105574529-chr8:105581183..105583326,2	K562	blood:

Variant related genes	Relation type
NDUFA5P2	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10429349	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985102	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985107	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985915	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988545	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988673	1.00[AMR][1000 genomes]
rs11988817	1.00[AMR][1000 genomes]
rs11990136	0.95[AFR][1000 genomes]
rs11992187	1.00[AMR][1000 genomes]
rs11993150	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997098	1.00[AMR][1000 genomes]
rs11998493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114034	1.00[AMR][1000 genomes]
rs12114649	1.00[AMR][1000 genomes]
rs12114911	1.00[YRI][hapmap]
rs1438354	1.00[AMR][1000 genomes]
rs28491098	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35172462	1.00[AMR][1000 genomes]
rs4562284	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105557400-105583800	Weak transcription	Thymus	Thymus
2	chr8:105566000-105575800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:105566200-105587200	Weak transcription	Left Ventricle	heart
4	chr8:105566400-105583400	Weak transcription	Fetal Thymus	thymus
5	chr8:105571200-105580800	Weak transcription	NHDF-Ad	bronchial
6	chr8:105571800-105577000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:105572800-105573800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:105573000-105574400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:105573400-105574200	Enhancers	K562	blood
10	chr8:105573600-105574400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links